Literature DB >> 26710023

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

Raul G Plomp1, Manouk J S van Lieshout, Koen F M Joosten, Eppo B Wolvius, Marc P van der Schroeff, Sarah L Versnel, René M L Poublon, Irene M J Mathijssen.   

Abstract

BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based on levels of evidence and supported with graded recommendations.
METHODS: A systematic search was performed by means of the PubMed, Web-of-Science, Embase, and Cochrane Central databases (1985 to January of 2014). Included were clinical studies (with five or more Treacher Collins syndrome patients) related to therapy, diagnosis, or risk of concomitant diseases. Level of evidence of the selected articles was rated according to the American Society of Plastic Surgeons evidence-based clinical practice guidelines. After two panelists had reviewed each abstract separately, a consensus method was used to solve any disagreements concerning article inclusion.
RESULTS: Of the 2433 identified articles, 63 studies (Level of Evidence II through V) were included. Conclusions and recommendations were extracted consecutively for the following items: upper airway; ear, hearing, and speech; the eye, eyelashes, and lacrimal system; growth, feeding, and swallowing; the nose; psychosocial factors; and craniofacial reconstruction.
CONCLUSIONS: In this systematic review, current evidence for the multidisciplinary treatment of Treacher Collins syndrome is provided, recommendations for treatment are made, and a proposed algorithm for treatment is presented. Although some topics are well supported, others, especially ocular, nasal, speech, feeding, and swallowing problems, lack sufficient evidence. In addition, craniofacial surgical reconstruction lacks a sufficient level of evidence to provide a sound basis for a full treatment protocol. Despite the rarity of the syndrome, more research is needed to compare outcomes of several surgical treatments, especially in orbitozygomatic/maxillary regions.

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Year:  2016        PMID: 26710023     DOI: 10.1097/PRS.0000000000001896

Source DB:  PubMed          Journal:  Plast Reconstr Surg        ISSN: 0032-1052            Impact factor:   4.730


  7 in total

1.  Oculoauriculovertebral spectrum and maxillary sinus volumes : CT-based comparative evaluation.

Authors:  Elisabeth Hofmann; Andreas Detterbeck; Taras Chepura; Christian Kirschneck; Matthias Schmid; Ursula Hirschfelder
Journal:  J Orofac Orthop       Date:  2018-06-08       Impact factor: 1.938

2.  [Three-dimensional measurement analysis of midface morphology in Treacher Collins syndromes].

Authors:  Yanxian Lin; Xiaoyang Ma; Yuanliang Huang; Lin Mu; Liya Yang; Minghao Zhao; Fang Xie; Chao Zhang; Jiajie Xu; Jianjian Lu; Li Teng
Journal:  Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi       Date:  2021-01-15

3.  TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.

Authors:  Xinmiao Fan; Yibei Wang; Yue Fan; Huiqian Du; Nana Luo; Shuyang Zhang; Xiaowei Chen
Journal:  Orphanet J Rare Dis       Date:  2019-07-15       Impact factor: 4.123

4.  Surgical management of the Tessier 7 cleft: A review and presentation of 5 cases.

Authors:  Hoda Khorasani; Slaven Boljanovic; Mary Amma Kjærulff Knudsen; Linda Plovmand Jakobsen
Journal:  JPRAS Open       Date:  2019-07-23

5.  Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.

Authors:  Chuan Zhang; Lisha An; Huiqin Xue; Shengju Hao; Yousheng Yan; Qinghua Zhang; Xiaohua Jin; Qian Li; Bingbo Zhou; Xuan Feng; Panpan Ma; Xing Wang; Xue Chen; Cuixia Chen; Zongfu Cao; Xu Ma
Journal:  J Clin Lab Anal       Date:  2020-09-09       Impact factor: 2.352

6.  [Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome].

Authors:  Yanxian Lin; Xiaoyang Ma; Li Teng
Journal:  Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi       Date:  2019-12-15

Review 7.  Ribosomopathies: New Therapeutic Perspectives.

Authors:  Emilien Orgebin; François Lamoureux; Bertrand Isidor; Céline Charrier; Benjamin Ory; Frédéric Lézot; Marc Baud'huin
Journal:  Cells       Date:  2020-09-11       Impact factor: 6.600

  7 in total

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